chrX:151396566:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:150,565,038-150,577,836 |
| hg38 | chrX:151,396,566-151,409,364 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Dyspepsia | NA | BeFree | Detail | |
| 0.001 | myopathy | Our cases highlight the importance of including non-coding regions of VMA21 in g... | BeFree | 25683699 | Detail |
| 0.001 | myopathy | X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopa... | BeFree | 25809233 | Detail |
| <0.001 | Cardiomyopathies | No cardiomyopathy in X-linked myopathy with excessive autophagy. | BeFree | 25845477 | Detail |
| <0.001 | Glycogen Storage Disease Type IIb | These features have been most clearly described in patients with Danon's disease... | BeFree | 25557463 | Detail |
| 0.360 | MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (disorder) | NA | CLINVAR,CTD_human,ORPHANET | Detail | |
| 0.001 | Vacuolar myopathy | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Our cases highlight the importance of including non-coding regions of VMA21 in genetic testing panel... | DisGeNET | Detail |
| X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently ... | DisGeNET | Detail |
| No cardiomyopathy in X-linked myopathy with excessive autophagy. | DisGeNET | Detail |
| These features have been most clearly described in patients with Danon's disease due to LAMP2 defici... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chrX:151,396,566-151,409,364
- Variant Type
- snv
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